Gchfr GTP cyclohydrolase I feedback regulator [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gchfrprovided by MGI
Official Full Name: GTP cyclohydrolase I feedback regulatorprovided by MGI
Primary source: MGI:MGI:2443977
See related: Ensembl:ENSMUSG00000046814 AllianceGenome:MGI:2443977
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: P35; GFRP; 2010323F13Rik
Summary: Predicted to enable several functions, including GTP cyclohydrolase binding activity; GTP-dependent protein binding activity; and amino acid binding activity. Predicted to be involved in negative regulation of GTP cyclohydrolase I activity and protein-containing complex assembly. Predicted to be located in dendrite; melanosome; and nucleus. Predicted to be part of protein-containing complex. Predicted to be active in cytoplasm and nucleus. Is expressed in medulla oblongata basal plate marginal layer; midbrain mantle layer; and pons marginal layer. Orthologous to human GCHFR (GTP cyclohydrolase I feedback regulator). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in liver adult (RPKM 229.2), kidney adult (RPKM 48.3) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 E5; 2 59.97 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (118998269..119002870)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (119167788..119172389)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Studies provide a new mechanism for regulation of endothelial GTPCH-1 by its phosphorylation and interplay with GFRP.
Title: GTP cyclohydrolase I phosphorylation and interaction with GTP cyclohydrolase feedback regulatory protein provide novel regulation of endothelial tetrahydrobiopterin and nitric oxide.
GTPCH expression is the primary regulator of BH4 levels, and changes in GTPCH or BH4 are not necessarily accompanied by changes in GFRP expression.
Title: GTP cyclohydrolase I expression, protein, and activity determine intracellular tetrahydrobiopterin levels, independent of GTP cyclohydrolase feedback regulatory protein expression.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1)
Endonuclease-mediated (3)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTP cyclohydrolase binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTP cyclohydrolase binding	ISO Inferred from Sequence Orthology more info
enables GTP-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables amino acid binding	ISO Inferred from Sequence Orthology more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables enzyme inhibitor activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in negative regulation of biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in protein-containing complex assembly	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in melanosome	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: GTP cyclohydrolase 1 feedback regulatory protein

Names: GTP cyclohydrolase I feedback regulatory protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_177157.4 → NP_796131.1 GTP cyclohydrolase 1 feedback regulatory protein

See identical proteins and their annotated locations for NP_796131.1

Status: PROVISIONAL

Source sequence(s)

AK028116

Consensus CDS

CCDS38204.1

UniProtKB/Swiss-Prot

P99025, Q8BH29

UniProtKB/TrEMBL

Q4VAF4

Related

ENSMUSP00000060835.4, ENSMUST00000057454.4

Conserved Domains (1) summary

pfam06399
Location:3 → 83

GFRP; GTP cyclohydrolase I feedback regulatory protein (GFRP)